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Entry | Name | Description | Category | Pathway | Gene |
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H02469 | Cone-rod synaptic disorder | ... vision, photophobia, and a normal fundus appearance. Recently, It has been reported that mutations in RIMS2 cause a syndromic congenital cone-rod synaptic disease (CRSDS) with neurodevelopmental and pancreatic ... | Nervous system disease |
(CRSD) CABP4 [HSA:57010] [KO:K23531] (CRSDS) RIMS2 [HSA:9699] [KO:K15297] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |